Genetic Screening
Genetic Screening
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DOI：
10.1093/epirev/mxr008
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发表时间：
2011-07-01
影响因子：
5.5
通讯作者：
Evans, James P.
中科院分区：
文献类型：
--
作者：
Burke, Wylie;Tarini, Beth;Evans, James P.
目前的遗传筛查方法包括新生儿筛查，以确定哪些婴儿将受益于早期治疗；生殖遗传筛查，以协助生殖决策；家族史评估，以确定哪些个体将受益于额外的预防措施。虽然筛查的传统目标是确定早期疾病或风险，以便实施预防性治疗，但遗传筛查一直包括一个非典型因素-与生殖决策相关的信息。新技术提供了越来越全面的遗传条件和易感性鉴定。基于这些技术的检测正在产生一种不同的筛查方法，旨在使个人了解其所有遗传特征和易感性，以实现快速诊断、计划生育和加速研究的目的，以及改进预防的传统筛查目标。在人群筛查中使用这些检测将增加基因筛查项目中已经遇到的挑战，包括假阳性和模棱两可的检测结果、过度诊断和偶然发现。这种方法是否可取还需要进一步的实证研究，但它也需要所有相关人员的仔细考虑，包括基因组研究人员、临床医生、公共卫生官员、卫生保健支付者，尤其是那些将成为这种新型筛查方法接受者的人。
Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element-information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach.